BMP8A Gene - Bone Morphogenetic Protein 8A
Comprehensive genomic and functional analysis of BMP8A, a member of the TGF-beta superfamily involved in bone development and spermatogenesis.
Gene Information Card
| Symbol | BMP8A |
|---|---|
| Full Name | bone morphogenetic protein 8a |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 353500 ncbi.nlm.nih.gov/gene/353500 |
| Ensembl ID | ENSG00000183682 |
| UniProt ID | Q7Z5Y6 |
| OMIM ID | 602146 |
| HGNC ID | 1074 |
| Aliases | BMP8, BMP8A, MGC131757 |
Description
BMP8A (bone morphogenetic protein 8a) is a member of the bone morphogenetic protein (BMP) family, which belongs to the transforming growth factor-beta (TGF-beta) superfamily. BMPs are involved in bone and cartilage development, cell differentiation, and embryogenesis. BMP8A specifically plays a role in spermatogenesis and male fertility, as well as in bone formation and energy homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia) | Impaired spermatogenesis due to reduced BMP8A signaling | PMID: 10615129 |
| Osteoporosis | Altered BMP8A expression affecting bone mineral density | PMID: 21909107 |
| Prostate cancer | BMP8A overexpression linked to tumor progression | PMID: 20628086 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Bone marrow | 6.8 | Medium |
| Prostate | 4.2 | Medium |
| Brain | 2.1 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 3.4 | Cervical cancer cell line |
| MCF7 | 2.1 | Breast cancer cell line |
| LNCaP | 5.6 | Prostate cancer cell line |
| NT2/D1 | 8.9 | Testicular embryonal carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% | Unknown functional impact |
| c.205G>A (p.Gly69Arg) | Missense | 0.005% | Potential loss of function |
| c.412_413insA | Frameshift | 0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in BMP8A are predicted to cause loss of function, potentially impairing spermatogenesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in BMP8A.
Dominant Negative (DN)
No dominant-negative mutations documented for BMP8A.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• BMP signaling pathway (Reactome: R-HSA-201451)
Protein Summary
BMP8A is a secreted ligand of the TGF-beta superfamily. The protein is synthesized as a precursor that is proteolytically processed to generate a mature, disulfide-linked homodimer. It binds to BMP receptors (type I and type II) to activate SMAD-dependent signaling, regulating gene expression involved in bone formation, spermatogenesis, and energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMP8A Knockout HEK293 Cell Line | EDJ-KQ1401 | Human | 353500 | Details Get a Quote |
| BMP8A Knockout HCT 116 Cell Line | EDJ-KQ20933 | Human | 353500 | Details Get a Quote |
| BMP8A Knockout HeLa Cell Line | EDJ-KQ20934 | Human | 353500 | Details Get a Quote |
| BMP8A Knockout A-549 Cell Line | EDJ-KQ68341 | Human | 353500 | Details Get a Quote |
